MYL3 - myosin light chain 3 Gene

Homo sapiens

Also known as CMH8; VLC1; VLCl; MLC1V; MLC1SB; MLC-lV/sb

Gene ID: 4634 | Gene type: protein coding

About MYL3

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:46,857,872-46,863,444 (from NCBI)

This gene has 8 transcripts (splice variants), 316 orthologues, 4 paralogues and is associated with 3 phenotypes. Restricted expression toward heart (RPKM 677.8).

Summary

MYL3 encodes Myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

MYL3 Products(6)

mRNA	Protein	Name
NM_000258.3	NP_000249.1	myosin light chain 3 isoform 1
NM_001406937.1	NP_001393866.1	myosin light chain 3 isoform 1
NM_001406938.1	NP_001393867.1	myosin light chain 3 isoform 1
NM_001406939.1	NP_001393868.1	myosin light chain 3 isoform 1
NM_001406940.1	NP_001393869.1	myosin light chain 3 isoform 2
NM_001406941.1	NP_001393870.1	myosin light chain 3 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin monomer binding	IDA IDA: Inferred from direct assay	16675844	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	16675844	GOA
involved in regulation of striated muscle contraction	IMP IMP: Inferred from mutant phenotype	16675844	GOA
involved in regulation of the force of heart contraction	IMP IMP: Inferred from mutant phenotype	16675844	GOA
involved in ventricular cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	8673105	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in A band	IDA IDA: Inferred from direct assay	16675844	GOA
located in I band	IDA IDA: Inferred from direct assay	16675844	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

myosin light chain 3

CMLC1

Related Diseases

Diseases

Alias

Cardiomyopathy, Familial Hypertrophic, 8

Hypertrophic Cardiomyopathy 8	CMH8
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1	Cardiomyopathy, Hypertrophic, 8
Cardiomyopathy Hypertrophic Mid-Left Ventricular Chamber Type 1	Cardiomyopathy, Familial Hypertrophic 8
Familial Hypertrophic Cardiomyopathy With Mid-Left Ventricular Chamber Type 1	Mvc1
Cardiomyopathy, Hypertrophic, Familial, Type 8

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Danon Disease

Pseudoglycogenosis Ii	Antopol Disease
Glycogen Storage Disease Iib	Glycogen Storage Disease Type 2b
Glycogen Storage Disease Type Iib	Gsd2b
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency	Vacuolar Cardiomyopathy And Myopathy X-Linked
Vacuolar Cardiomyopathy And Myopathy, X-Linked	Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
Gsd2b, Formerly	Gsd Iib, Formerly
Glycogen Storage Cardiomyopathy	Glycogen Storage Disease Limited To The Heart
Pseudoglycogenosis 2	X-Linked Vacuolar Cardiomyopathy And Myopathy
Lysosomal Glycogen Storage Disease With Normal Acid Maltase	Glycogen Storage Disease Due To Lamp-2 Deficiency
Gsd Due To Lamp-2 Deficiency	Glycogenosis Due To Lamp-2 Deficiency
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity	DAND
Gsd-Iib

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Intrinsic Cardiomyopathy

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Myopathy, Distal, 1

Laing Distal Myopathy	Laing Early-Onset Distal Myopathy
MPD1	Distal Myopathy 1
Myopathy, Distal, Early-Onset, Autosomal Dominant	Distal Myopathy Type 1
Gowers Disease	Myopathy, Late Distal Hereditary
Myopathy Distal, Type 1	Myopathy Distal Early-Onset Autosomal Dominant
Myopathy Late Distal Hereditary	Myopathy, Distal, Type 1
Welander Distal Myopathy

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08915	MYL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MYL3	RGD	RGD:3142
Bos taurus	MYL3	VGNC	VGNC:31801
Macaca mulatta	MYL3	VGNC	VGNC:75104
Canis familiaris	MYL3	VGNC	VGNC:43544
Mus musculus	MYL3	MGD	MGI:97268
Felis catus	MYL3	VGNC	VGNC:102647

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